Canonical Allele Identifier: CA2671365068
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007677-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007677G>T , CM000666.2:g.88007677G>T GRCh38
NC_000004.11:g.88928829G>T , CM000666.1:g.88928829G>T GRCh37
NC_000004.10:g.89147853G>T NCBI36
NG_008604.1:g.5010G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-57G>T MANE Select ENSP00000237596.2:n.-57G>T
ENST00000237596.6:c.-57G>T ENSP00000237596.2:n.-57G>T
NM_000297.3:c.-57G>T NP_000288.1:n.-57G>T
XM_011532028.1:c.-57G>T XP_011530330.1:n.-57G>T
XR_244632.2:n.39G>T
NR_156488.1:n.31G>T
XM_011532028.2:c.-57G>T XP_011530330.1:n.-57G>T
NM_000297.4:c.-57G>T MANE Select NP_000288.1:n.-57G>T
NR_156488.2:n.43G>T